ClinVar for Gene (Select 94033) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280132	NM_177478.2(FTMT):c.67C>T (p.Arg23Cys)	FTMT (R23C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097385	NM_177478.2(FTMT):c.690T>G (p.Phe230Leu)	FTMT (F230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2685169	GRCh37/hg19 5q23.1-23.2(chr5:119452524-121673870)x1	FTMT, LOX +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 2611499	NM_177478.2(FTMT):c.587A>G (p.Tyr196Cys)	FTMT (Y196C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489710	NM_177478.2(FTMT):c.62C>T (p.Pro21Leu)	FTMT (P21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473211	NM_177478.2(FTMT):c.397C>A (p.Gln133Lys)	FTMT (Q133K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458672	NM_177478.2(FTMT):c.677C>G (p.Ala226Gly)	FTMT (A226G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399240	NM_177478.2(FTMT):c.650A>T (p.Lys217Met)	FTMT (K217M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377211	NM_177478.2(FTMT):c.104G>C (p.Gly35Ala)	FTMT (G35A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369492	NM_177478.2(FTMT):c.346C>A (p.Leu116Ile)	FTMT (L116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366669	NM_177478.2(FTMT):c.142C>T (p.Pro48Ser)	FTMT (P48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364883	NM_177478.2(FTMT):c.665A>T (p.Asp222Val)	FTMT (D222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279028	NM_177478.2(FTMT):c.479T>C (p.Met160Thr)	FTMT (M160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276157	NM_177478.2(FTMT):c.512A>G (p.Asn171Ser)	FTMT (N171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275857	NM_177478.2(FTMT):c.219C>A (p.His73Gln)	FTMT (H73Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265114	NM_177478.2(FTMT):c.508G>A (p.Val170Met)	FTMT (V170M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211708	NM_177478.2(FTMT):c.176C>T (p.Thr59Ile)	FTMT (T59I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 686227	GRCh37/hg19 5q23.1-23.2(chr5:120035723-121808658)x1	FTMT, LOX +3 more	Copy number loss	not provided	GUncertain significance
Select item 685538	GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1	AP3S1, APC +39 more	Copy number loss	not provided	GPathogenic
Select item 685497	GRCh37/hg19 5q23.1-23.2(chr5:120785278-122419820)x1	FTMT, LOX +6 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563102	GRCh37/hg19 5q23.1(chr5:121095875-121247735)x1	FTMT	Copy number loss	not provided	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 443241	GRCh37/hg19 5q23.1-23.2(chr5:121108870-122778090)x4	CEP120, FTMT +8 more	Copy number gain	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441762	GRCh37/hg19 5q23.1-23.2(chr5:120032407-123896355)x1	CEP120, CSNK1G3 +9 more	Copy number loss	See cases	GUncertain significance
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395290	GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1	TRIM36, TSLP +41 more	Copy number loss	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 394034	GRCh37/hg19 5q23.1(chr5:121187653-121188438)x3	FTMT	Copy number gain	See cases	GLikely benign
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59449	GRCh38/hg38 5q23.1-23.2(chr5:118854384-122849602)x3	DMXL1, DMXL1-DT +84 more	Copy number gain	See cases	GUncertain significance
Select item 58355	GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1	ALDH7A1, CEP120 +105 more	Copy number loss	See cases	GPathogenic
Select item 57490	GRCh38/hg38 5q23.1-23.2(chr5:120695675-124525372)x1	CEP120, CSNK1G3 +55 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 47